Linked Data
dbSNP Id:
rs778024379
ExAC:
12:56350827 AGTT / A
gnomAD v2:
12-56350827-AGTT-A
gnomAD v3:
12-55957043-AGTT-A
gnomAD v4:
12-55957043-AGTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55957047_55957049del , CM000674.2:g.55957047_55957049del | GRCh38 |
| NC_000012.11:g.56350831_56350833del , CM000674.1:g.56350831_56350833del | GRCh37 |
| NC_000012.10:g.54637098_54637100del | NCBI36 |
| NG_028086.1:g.14667_14669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.1257_1259del MANE Select | ENSP00000448828.1:p.Thr420del | |
| ENST00000449260.6:c.1257_1259del | ENSP00000402758.2:p.Thr420del | |
| ENST00000548493.5:c.1257_1259del | ENSP00000447374.1:p.Thr420del | |
| ENST00000548747.5:c.1257_1259del | ENSP00000448828.1:p.Thr420del | |
| ENST00000548803.5:c.684_686del | ENSP00000447732.1:p.Thr229del | |
| ENST00000549404.5:c.793_795del | ||
| ENST00000549564.1:n.235+62_235+64del | ||
| ENST00000550447.5:c.359-1183_359-1181del | ENSP00000448029.1:n.359-1183_359-1181del | |
| ENST00000550464.5:c.999_1001del | ENSP00000450036.1:p.Thr334del | |
| ENST00000552882.5:c.1257_1259del | ENSP00000449690.1:p.Thr420del | |
| NM_001200053.1:c.999_1001del | NP_001186982.1:p.Thr334del | |
| NM_001200054.1:c.1257_1259del | NP_001186983.1:p.Thr420del | |
| NM_006928.4:c.1257_1259del | NP_008859.1:p.Thr420del | |
| XM_006719569.1:c.1257_1259del | XP_006719632.1:p.Thr420del | |
| XM_011538685.1:c.1257_1259del | XP_011536987.1:p.Thr420del | |
| XM_011538686.1:c.1131_1133del | XP_011536988.1:p.Thr378del | |
| XM_011538687.1:c.1131_1133del | XP_011536989.1:p.Thr378del | |
| NM_001320121.1:c.1131_1133del | NP_001307050.1:p.Thr378del | |
| NM_001320122.1:c.1131_1133del | NP_001307051.1:p.Thr378del | |
| NM_001384361.1:c.1257_1259del MANE Select | NP_001371290.1:p.Thr420del | |
| NM_006928.5:c.1257_1259del | NP_008859.1:p.Thr420del |